Adulthood in women with Turner syndrome

Turner syndrome, resulting from a complete or partial absence of one X chromosome, is the most commonly occurring chromosomal abnormality in females. Patients have traditionally been carefully followed in paediatric practice during childhood, but were often discharged to primary care on reaching adulthood. Adults with Turner syndrome are thought to have a reduced life expectancy, mainly due to excess cardiovascular risk, but they may also have multiple comorbidities including hypothyroidism, deafness, osteoporosis and the attendant problems of oestrogen deficiency and infertility. A multidisciplinary approach to focused adult care is needed, with consideration of how to optimise surveillance strategies in these women.     

Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells,lymphocytes and ovarian tissue

The early detection of Y-chromosomal material in women with Turner syndrome (TS) is of great importance due to a relatively high risk of gonadal tumour development. Using fluorescence in situ hybridisation (FISH) analysis, we studied the presence of three different Y-specific sequences (SRY, Ycen and Yq12) in three different tissues (oral epithelial cells, lymphocytes and ovarian tissue) of twelve TS women. We have also described their ovarian histology. Two of the women (17%) had gonadal tumours. In five women where ovarian tissue was available, the presence of Y-chromosomal material in oral epithelial cells and lymphocytes correlated to the presence of Y-chromosomal material in the gonads. We therefore conclude that FISH analysis of oral epithelial cells and/or lymphocytes is a valuable complement to karyotyping for the early detection of Y-chromosomal material in TS women.     

Psychosocial functioning, self-perception and body image and their auxologic correlates in growth hormone and oestrogen-treated young adult women with Turner syndrome

BACKGROUND: Few data are available on the psychosocial status of growth hormone (GH) and oestrogen treated women with Turner syndrome (TS). In this study, we evaluated psychosocial functioning, self-concept and body image in GH and oestrogen treated young adult women with TS and we studied the relationship with auxological parameters. PATIENTS AND METHODS: Thirty women with TS (mean +/- SD age: 22.1 +/- 2.4 years), all treated with GH and oestrogens if indicated, and an age-matched reference group of 44 non-Turner female students (age: 20.5 +/- 2.1 years) completed 3 questionnaires evaluating, respectively, behavioural and emotional problems (Young Adult Self Report), self-concept (Self Perception Profile for College Students) and body-image (Body Attitude Scale). RESULTS: TS patients did not report more behavioural and emotional problems compared to the non-TS females except for attention problems; they even reported fewer problems on some subscales (somatic complaints, thought problems, delinquent behaviour). TS patients did not differ from the non-TS female group in their bodily satisfaction. TS patients, particularly patients with a 45,X karyotype, perceived themselves as less socially competent. BMI was significantly related to the appraisal score of the Body Attitude Scale, whereas height was not related to any of the evaluated psychosocial parameters. CONCLUSION: The psychosocial adaptation of young adult women with TS, diagnosed at an early age and treated during childhood with GH and oestrogens if indicated, appears to be quite satisfactory. Follow-up of adult TS patients should not neglect the problem of overweight and associated psychosocial consequences.     

The physical phenotype of girls and women with Turner syndrome is not X-imprinted

Certain behavioral and metabolic aspects of Turner syndrome (TS) are attributed to X-chromosome genomic imprinting. To investigate the possible contribution of imprinting to the physical features of the TS phenotype in live-born individuals, we genotyped the single normal X-chromosome in subjects with TS who all underwent a comprehensive evaluation as part of the NIH genotype–phenotype protocol. All had physical examinations, auxological measurements and imaging of the renal and cardiovascular systems. Absolute height and height as a percent of predicted height was the same in X^M (n = 56) and X^P (n = 23) subjects that had reached final height and were not growth hormone treated. Interestingly, adult height was significantly correlated with maternal but not paternal heights in both X^M and X^P groups. Neck webbing was found in 35% of the X^M (n = 133) and 22% of the X^P (n = 50) groups (P = 0.11). Renal anomalies were present in 24% of X^M and 25% of X^P groups (P = 0.9). Bicuspid aortic valve was found in 26% of X^M and 24% of X^P groups (P = 0.83), and any cardiovascular anomaly (abnormal aortic valve, aortic coarctation, elongated transverse aortic arch, anomalous pulmonary venous connection, left superior vena cava) affected 55% of X^M and 52% of X^P groups. Thus, we found no evidence for X-linked genomic imprinting effects on stature or lymphatic, renal or cardiovascular development in TS. Our sample size was sufficient to exclude such effects within 95% confidence limits. We did demonstrate a selective maternal effect on final stature that was independent of X-chromosome origin, suggesting potential autosomal imprinting effects on growth revealed by X monosomy.     

Similarities between parents and their adopted children

As shown in 7,230 parent-child pairs (6,726 biological and 504 adoptive), adoptive parents and their adopted children tend to resemble each other in height, weight and fatfolds to an extent paralleling height, weight and fatfold resemblances of natural (biological) parents and their children. Accordingly, the magnitudes of parent-child resemblances commonly given may not be indicative of the extent of heritability of stature, weight and subcutaneous fat.     

Dermatoglyphic differences between 45,X and other chromosomal abnormalities of Turner syndrome

Summary The dermatoglyphic findings in 87 patients with Turner syndrome are summarized. Comparisons are made between the 50 cases with 45,X karyotypes and the remaining 37 with different chromosomal abnormalities including 19 patients with an X long arm isochromosome cell line. The results indicate differences between the 45,X patients and the other chromosomal types which are in the same direction as the changes reported between Turner syndrome and normal controls.     

Proteomic analysis of amniotic fluid in pregnancies with Turner syndrome fetuses

Turner syndrome, occurring in 1:2500 female births, is caused by the complete or partial absence of one X chromosome. Amniotic fluid supernatant proteins from five second trimester pregnancies with Turner syndrome fetuses and five normal ones were analyzed by 2DE, MALDI-TOF-MS, and Western blot. Serotransferin, lumican, plasma retinol-binding protein, and apolipoprotein A-I were increased in Turner syndrome, while kininogen, prothrombin, and apolipoprotein A-IV were decreased. Since differentially expressed proteins are likely to cross the placenta barrier and be detected in maternal plasma, proteomic analysis may enhance research for noninvasive prenatal diagnosis of Turner syndrome.     

The uterine length in women with Turner syndrome reflects the postmenarcheal daily estrogen dose

AIM: To evaluate the effects of estrogen substitution on the uterine development in patients with Turner syndrome. METHOD: 57 women, aged 18.1-41.5 years, were treated with estrogen from puberty induction. RESULTS: In 21 women (37%), the uterus developed to >65 mm in length. The daily estrogen dose correlated with both uterine length (r = 0.29; p < 0.05) and Tanner breast stage (r = 0.44; p < 0.001). A negative correlation between age at artificial menarche and uterine length was found (r = -0.29; p < 0.05). The endometrium thickness was greater in women with an uterus length >65 mm (p < 0.05). In 50% of the women (18 were evaluated), an adult-shaped uterus developed. Previous growth hormone therapy (n = 32) had no impact on the uterus length. CONCLUSIONS: The uterine development was suboptimal in most patients. Further investigation is needed to optimize estrogen therapy for uterine development in patients with Turner syndrome.     

An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters

An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, intrauterine growth retardation, short stature, microbrachycephaly, hirsutism and limb anomalies. Here, we reviewed the findings of seven infants with BDLS, of whom two were identical twin sisters of normal parents. All of the infants' parents were normal, and no consanguinity between the parents was noted although the ratio of consanguineous marriages is very high (21.1%) in Turkey. It is well known that most cases of BDLS are sporadic, some cases of this disorder are inherited in an autosomal dominant trait. Our findings suggested that familial cases of BDLS were infrequent, and vast majority of cases appeared to be sporadic and the occurrence of the syndrome in the identical twin sisters of normal parents was also thought a heterogeneity in this condition, overlapping with other conditions and syndromes as mentioned by Fryns et al.     

The 60- and 70-kDa heat-shock proteins and their correlation with cardiovascular risk factors in postmenopausal women with metabolic syndrome

We investigated the association between circulating levels of 60 and 70 kDa heat-shock proteins (HSP60 and 70) and cardiovascular risk factors in postmenopausal women with or without metabolic syndrome (MetS). This cross-sectional study included 311 Brazilian women (age ≥45 years with amenorrhea ≥12 months). Women showing three or more of the following diagnostic criteria were diagnosed with MetS: waist circumference (WC) ≥88 cm, blood pressure ≥130/85 mmHg, triglycerides ≥150 mg/dl, high-density lipoprotein (HDL) <50 mg/dl, and glucose ≥100 mg/dl. Clinical, anthropometric, and biochemical parameters were collected. HSP60, HSP70, antibodies to HSP60 and HSP70, and C-reactive protein (CRP) levels were measured in serum. Student''s t test, Kruskal–Wallis test, chi-square test, and Pearson correlation were used for statistical analysis. Of the 311 women, 30.9 % (96/311) were diagnosed with MetS. These women were, on average, obese with abdominal fat deposition and had lower HDL values as well as higher triglycerides and glucose levels. Homeostasis model assessment-insulin resistant (HOMA-IR) test values in these women were compatible with insulin resistance (P < 0.05). CRP and HSP60 concentrations were higher in women with MetS than in women without MetS (P < 0.05). HSP60, anti-HSP70, and CRP concentrations increased with the number of features indicative of MetS (P < 0.05). There was a significant positive correlation between anti-HSP70 and WC, blood pressure and HOMA-IR, and between CRP and WC, blood pressure, glucose, HOMA-IR, and triglycerides (P < 0.05). In postmenopausal women, serum HSP60 and anti-HSP70 concentrations increased with accumulating features of the metabolic syndrome. These results suggest a greater immune activation that is associated with cardiovascular risk in postmenopausal women with metabolic syndrome.     

Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents

In early infancy, two unrelated children with Smith-Lemli-Opitz syndrome were found to have elevated levels of androgen sulfates. When the steroid conjugates in the serum of normal infants were hydrolyzed and chromatographed on Sephadex LH-20, 4 androgen containing peaks (I, II, III, IV) were found. In the serum from these two infants with Smith-Lemli-Opitz syndrome, Peaks I and III were increased, but Peaks II and IV were absent. The parents of the two children, and of three additional unrelated children with Smith-Lemli-Opitz syndrome, had exaggerated 17-hydroxyprogesterone responses to an intravenous bolus of ACTH. These findings suggest that a defect in steroid metabolism may be linked to the Smith-Lemli-Opitz syndrome.     

Turner syndrome, insulin sensitivity and growth hormone treatment

Mild insulin resistance appears to be an early metabolic defect in girls with Turner syndrome (TS). Impaired glucose tolerance has been reported in 10-34% of patients with TS, and type 2 diabetes mellitus is 2-4 times more common and occurs at a younger age in girls with TS than in the general population. In a mixed longitudinal and cross-sectional study, we analysed carbohydrate tolerance and insulin sensitivity in 46 children and adolescents with TS who reached their final height after long-term treatment (mean 6.3 +/- 2.5 years) with growth hormone (GH: 0.33 mg/kg/week [0.05 mg/kg/day]), and in 36 of these patients who were followed-up after the cessation of GH therapy (mean follow-up, 2.6 +/- 2.5 years; range, 1-9.5 years). Patients with TS were compared with an age-matched female control group. Insulin sensitivity appeared to be lower in patients with TS than in controls, even before the start of GH therapy. As in controls, insulin sensitivity decreased with age in patients with TS, and levels were lower in those aged >12 years than in those aged <12 years. GH therapy resulted in good catch-up growth in patients with TS, with final height significantly higher than projected height evaluated before the initiation of GH therapy. Insulin sensitivity increased after 7-8 years of therapy and, on the cessation of GH therapy, returned to pre-treatment levels. The increase in insulin sensitivity seen on the cessation of GH therapy appeared to be influenced negatively by body mass index and triglyceride levels, and correlated positively with the number of years since cessation of GH therapy. As in the general population, excess weight and an abnormal lipid profile, in particular excess triglyceride levels, worsened insulin sensitivity. In conclusion, our study confirms that GH therapy reduces insulin sensitivity, but at its cessation there is a return to pre-therapy values. We therefore report a progressive improvement in carbohydrate tolerance and insulin function in patients with TS, despite an increase in age.     

Comparison of proteomes between wheat-rye translocations and their recurrent parents

2BS.2RL wheat-rye translocations have presented phenotypes of improved agronomic performance, such as Hessian fly resistance. The main objective of this work was to use two-dimensional electrophoresis to identify the proteomic differences between 2BS.2RL wheat-rye translocations and their recurrent parents. The investigation of seeds revealed line-specific protein spots, such as α-amylase inhibitor 0.19. More diverse expression patterns were observed in leaves than in seeds. Protein spots found specifically in 2BS.2RL, but not in non-2RL translocations were identified as β-glucosidase and vacuolar ATP synthase subunit B2, demonstrating the effects of translocated rye chromatin 2RL on common wheat genetic background. When the leaf protein spots were compared in the control and Hessian fly-infested near-isogenic line (NIL) (2BS.2RL), many down-regulated proteins and specific proteins, such as β-glucosidase, were detected in the latter.     

SV40 T-antigen expression in cultured fibroblasts from patients with down syndrome and their parents

Expression of simian papovavirus 40 (SV40) T-antigen following in vitro infection was studied in skin fibroblasts from patients with Down syndrome (DS) and their parents to determine whether the increased susceptibility to SV40 infection reflected the cytogenetic defect or the leukemia risk associated with this syndrome. As a group, fibroblasts from patients with DS showed elevated T-antigen expression 72 hrs after infection compared to that of a healthy control population. However, among 24 patients tested, the cell lines of only 11 showed statistically significant increases in T-antigen expression. A cell line from a patient with concurrent DS and acute myelogenous leukemia had a normal value. T-antigen expression did not correlate with the percentage of cells trisomic for chromosome 21 in 18 cell lines examined or with the number of copies of this chromosome in disomic and trisomic cell strains cloned from three mosaic patients.Collectively, cell lines from parents of trisomy 21 patients also showed increased susceptibility to SV40 infection; however, in five families tested, a consistent pattern of genetic transmission of elevated T-antigen expression from parent to offspring was not observed. Q-banding of cell lines in one family showed that elevated T-antigen expression is not a marker of parental nondisjunction. Variation in susceptibility to human interferon, an antiviral agent, did not account for variation in T-antigen levels among these cell lines. Thus, the abnormalities of T-antigen expression in DS appear independent of the hyperdiploid state and are not a sensitive indicator of cancer risk.     

Chromosomal and clinical findings in 110 females with Turner syndrome

Summary One hundred and ten patients with abnormal karyotypes who were referred to the Department of Medical Genetics with the possible diagnosis of Turner syndrome were reviewed. The frequency of chromosomal abnormalities and clinical findings in the different chromosomal types are summarized.     

异源四倍体鲫鲤雌核发育后代及其亲本RAPD分析

异源四倍体鲫鲤是湖南师范大学鱼类发育生物学实验室和湖南湘阴县东湖渔场在红鲫(♀)和湘江野鲤(♂)的杂交后代中选育出来的四倍体鱼,目前已连续繁殖14代(F3-F16),已形成一个四倍体性能代代相传、遗传性状稳定的四倍体鱼群体,这是世界上唯一人工培育的两性可育的异源四倍体鱼[1—2]。利用四倍体鱼与二倍体白鲫、二倍体鲤鱼杂交,可获得生长快、肉质鲜美、抗病力强等优良性状的不育三倍体湘云鲫、三倍体湘云鲤[3],并已在全国28个省市推广养殖,取得了显著的经济和社会效益。异源四倍体鲫鲤雌性个体产生的二倍体卵子具有两套染色体,在没有染色…